Variant report

Variant	rs12705480
Chromosome Location	chr7:78105230-78105231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10241266	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10257012	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10279188	0.82[AMR][1000 genomes]
rs10485898	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11763843	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12705479	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1990579	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6466241	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6466242	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6651114	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7794954	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7806044	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7808641	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9691175	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9886106	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78099800-78106200	Weak transcription	Brain Angular Gyrus	brain
2	chr7:78101800-78105600	Enhancers	Brain Anterior Caudate	brain
3	chr7:78102200-78108200	Weak transcription	Ovary	ovary
4	chr7:78102600-78106400	Weak transcription	HSMMtube	muscle
5	chr7:78103000-78117600	Weak transcription	Fetal Brain Female	brain
6	chr7:78103200-78105800	Weak transcription	HSMM	muscle
7	chr7:78103200-78106000	Weak transcription	Brain Substantia Nigra	brain
8	chr7:78103400-78105400	Weak transcription	Osteobl	bone
9	chr7:78103400-78108600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:78103400-78108600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:78103600-78105400	Enhancers	Fetal Heart	heart
12	chr7:78103800-78115600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:78104400-78105600	Enhancers	Brain Hippocampus Middle	brain
14	chr7:78104400-78106600	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:78104400-78116800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:78105000-78106600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:78105200-78105600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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